POLD1

DNA polymerase delta 1, catalytic subunit
OMIM: 174761, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green POLD1 in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.17	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381 MONDO:0014157
Green POLD1 in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381 MONDO:0014157 Immunodeficiency 120, MIM# 620836
Green POLD1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.210	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381 Non-syndromic deafness
Green POLD1 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.114 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 120, MIM# 620836 Low CD4 T cells Low B cells, normal maturation recurrent respiratory tract infections, skin infections, warts and molluscum short stature intellectual disability
Red POLD1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual disability immunodeficiency
Green POLD1 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.136 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes mandibular hypoplasia-deafness-progeroid syndrome MONDO:0014157
Green POLD1 in Fetal anomalies Version 1.313	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 615381
Green POLD1 in Colorectal Cancer and Polyposis Level 2: Cancer Predisposition Version 1.1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes POLD1-related polyposis and colorectal cancer syndrome, MONDO:0100351 POLD1-associated polyposis, MIM#612591
Green POLD1 in Endometrial Cancer Level 2: Cancer Predisposition Version 1.1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Endometrial cancer, MONDO:0011962 POLD1-related polyposis and colorectal cancer syndrome, MONDO:0100351 POLD1-associated polyposis, MIM#612591